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Protein

Cytochrome P450 26C1

Gene

CYP26C1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Plays a role in retinoic acid metabolism. Acts on retinoids, including all-trans-retinoic acid (RA) and its stereoisomer 9-cis-RA (preferred substrate).

Cofactori

hemeBy similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi459Iron (heme axial ligand)Sequence analysis1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionMonooxygenase, Oxidoreductase
LigandHeme, Iron, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-211916 Vitamins
R-HSA-5365859 RA biosynthesis pathway
R-HSA-5579004 Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4)

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome P450 26C1 (EC:1.14.-.-)
Gene namesi
Name:CYP26C1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000187553.8
HGNCiHGNC:20577 CYP26C1
MIMi608428 gene
neXtProtiNX_Q6V0L0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei9 – 29HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Focal facial dermal dysplasia 4 (FFDD4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. Skin defects occur at the sites of facial fusion during embryogenesis, with temporal lesions situated at the junction between the frontonasal and maxillary facial prominences, and preauricular lesions at the meeting point of the maxillary and mandibular prominences. The ectodermal lesions show consistent histologic abnormalities: atrophy and flattening of the epidermis, replacement of the dermis by loose connective tissue, reduced levels of fragmented elastic tissue and absence of the subcutaneous tissues and adnexal structures. FFDD4 is characterized by isolated, preauricular skin lesions.
See also OMIM:614974

Keywords - Diseasei

Ectodermal dysplasia

Organism-specific databases

DisGeNETi340665
MalaCardsiCYP26C1
MIMi614974 phenotype
OpenTargetsiENSG00000187553
Orphaneti398189 Focal facial dermal dysplasia type IV
PharmGKBiPA134913464

Polymorphism and mutation databases

BioMutaiCYP26C1
DMDMi71153209

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000519871 – 522Cytochrome P450 26C1Add BLAST522

Proteomic databases

PaxDbiQ6V0L0
PeptideAtlasiQ6V0L0
PRIDEiQ6V0L0
ProteomicsDBi67704

PTM databases

iPTMnetiQ6V0L0
PhosphoSitePlusiQ6V0L0

Expressioni

Tissue specificityi

Detected in most tissues at very low level.1 Publication

Inductioni

By retinoic acid.1 Publication

Gene expression databases

BgeeiENSG00000187553 Expressed in 12 organ(s), highest expression level in substantia nigra
CleanExiHS_CYP26C1
ExpressionAtlasiQ6V0L0 baseline and differential

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000285949

Structurei

3D structure databases

ProteinModelPortaliQ6V0L0
SMRiQ6V0L0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome P450 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0157 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00800000124060
HOGENOMiHOG000220829
HOVERGENiHBG051099
InParanoidiQ6V0L0
KOiK12665
OMAiRYVDCVV
OrthoDBiEOG091G0K6Z
PhylomeDBiQ6V0L0
TreeFamiTF105093

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002403 Cyt_P450_E_grp-IV
IPR036396 Cyt_P450_sf
PfamiView protein in Pfam
PF00067 p450, 1 hit
PRINTSiPR00465 EP450IV
PR00385 P450
SUPFAMiSSF48264 SSF48264, 1 hit
PROSITEiView protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q6V0L0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MFPWGLSCLS VLGAAGTALL CAGLLLSLAQ HLWTLRWMLS RDRASTLPLP
60 70 80 90 100
KGSMGWPFFG ETLHWLVQGS RFHSSRRERY GTVFKTHLLG RPVIRVSGAE
110 120 130 140 150
NVRTILLGEH RLVRSQWPQS AHILLGSHTL LGAVGEPHRR RRKVLARVFS
160 170 180 190 200
RAALERYVPR LQGALRHEVR SWCAAGGPVS VYDASKALTF RMAARILLGL
210 220 230 240 250
RLDEAQCATL ARTFEQLVEN LFSLPLDVPF SGLRKGIRAR DQLHRHLEGA
260 270 280 290 300
ISEKLHEDKA AEPGDALDLI IHSARELGHE PSMQELKESA VELLFAAFFT
310 320 330 340 350
TASASTSLVL LLLQHPAAIA KIREELVAQG LGRACGCAPG AAGGSEGPPP
360 370 380 390 400
DCGCEPDLSL AALGRLRYVD CVVKEVLRLL PPVSGGYRTA LRTFELDGYQ
410 420 430 440 450
IPKGWSVMYS IRDTHETAAV YRSPPEGFDP ERFGAAREDS RGASSRFHYI
460 470 480 490 500
PFGGGARSCL GQELAQAVLQ LLAVELVRTA RWELATPAFP AMQTVPIVHP
510 520
VDGLRLFFHP LTPSVAGNGL CL
Length:522
Mass (Da):57,111
Last modified:July 19, 2005 - v2
Checksum:i5401DF5646E51060
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A096LNL5A0A096LNL5_HUMAN
Cytochrome P450 26C1
CYP26C1 hCG_39535
302Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti447F → L in AAQ55485 (PubMed:14532297).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022886245R → Q. Corresponds to variant dbSNP:rs11187265Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY356349 mRNA Translation: AAQ55485.1
AL358613 Genomic DNA No translation available.
CCDSiCCDS7425.1
RefSeqiNP_899230.2, NM_183374.2
UniGeneiHs.369993

Genome annotation databases

EnsembliENST00000285949; ENSP00000285949; ENSG00000187553
GeneIDi340665
KEGGihsa:340665
UCSCiuc010qns.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY356349 mRNA Translation: AAQ55485.1
AL358613 Genomic DNA No translation available.
CCDSiCCDS7425.1
RefSeqiNP_899230.2, NM_183374.2
UniGeneiHs.369993

3D structure databases

ProteinModelPortaliQ6V0L0
SMRiQ6V0L0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000285949

PTM databases

iPTMnetiQ6V0L0
PhosphoSitePlusiQ6V0L0

Polymorphism and mutation databases

BioMutaiCYP26C1
DMDMi71153209

Proteomic databases

PaxDbiQ6V0L0
PeptideAtlasiQ6V0L0
PRIDEiQ6V0L0
ProteomicsDBi67704

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000285949; ENSP00000285949; ENSG00000187553
GeneIDi340665
KEGGihsa:340665
UCSCiuc010qns.2 human

Organism-specific databases

CTDi340665
DisGeNETi340665
EuPathDBiHostDB:ENSG00000187553.8
GeneCardsiCYP26C1
H-InvDBiHIX0025937
HGNCiHGNC:20577 CYP26C1
MalaCardsiCYP26C1
MIMi608428 gene
614974 phenotype
neXtProtiNX_Q6V0L0
OpenTargetsiENSG00000187553
Orphaneti398189 Focal facial dermal dysplasia type IV
PharmGKBiPA134913464
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0157 Eukaryota
COG2124 LUCA
GeneTreeiENSGT00800000124060
HOGENOMiHOG000220829
HOVERGENiHBG051099
InParanoidiQ6V0L0
KOiK12665
OMAiRYVDCVV
OrthoDBiEOG091G0K6Z
PhylomeDBiQ6V0L0
TreeFamiTF105093

Enzyme and pathway databases

ReactomeiR-HSA-211916 Vitamins
R-HSA-5365859 RA biosynthesis pathway
R-HSA-5579004 Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4)

Miscellaneous databases

GeneWikiiCYP26C1
GenomeRNAii340665
PROiPR:Q6V0L0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000187553 Expressed in 12 organ(s), highest expression level in substantia nigra
CleanExiHS_CYP26C1
ExpressionAtlasiQ6V0L0 baseline and differential

Family and domain databases

Gene3Di1.10.630.10, 1 hit
InterProiView protein in InterPro
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002403 Cyt_P450_E_grp-IV
IPR036396 Cyt_P450_sf
PfamiView protein in Pfam
PF00067 p450, 1 hit
PRINTSiPR00465 EP450IV
PR00385 P450
SUPFAMiSSF48264 SSF48264, 1 hit
PROSITEiView protein in PROSITE
PS00086 CYTOCHROME_P450, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCP26C_HUMAN
AccessioniPrimary (citable) accession number: Q6V0L0
Secondary accession number(s): Q5VXH6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: July 19, 2005
Last modified: September 12, 2018
This is version 129 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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Main funding by: National Institutes of Health

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